Gyrate Atrophy of the Retina: Inborn Error of L-ornithin:2-oxoacid Aminotransferase

Overview

Journal Science

Specialty Science

Date 1978 Apr 14

PMID 635581

Citations 20

Authors

J J ODonnell

R P SANDMAN

S R Martin

Affiliations

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Abstract

Cultured fibroblasts from a patient with gyrate atrophy of the retina do not convert L-ornithine, uniformly labeled with carbon-14, to proline. This metabolic block is caused by deficient L-ornithine:2-oxoacid aminotransferase activity in the patient. Her heterozygote father has intermediate activity of this enzyme.

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